• Gene id: 10083

Gene Summary

• Gene Symbol: USH1C   Gene   UCSC   Ensembl
• Aliases: AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst
• Gene name: USH1 protein network component harmonin
• Alternate names: harmonin, Usher syndrome 1C (autosomal recessive, severe), antigen NY-CO-38/NY-CO-37, autoimmune enteropathy-related antigen AIE-75, renal carcinoma antigen NY-REN-3, usher syndrome type-1C protein,
• Gene location: 11p15.1 (17544415: 17493894)     Exons: 29     NC_000011.10
• Gene summary(Entrez): This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are t
• OMIM: 605242

Protein Summary

• Protein general information: Q9Y6N9  
  • Name: Harmonin (Antigen NY CO 38/NY CO 37) (Autoimmune enteropathy related antigen AIE 75) (Protein PDZ 73) (Renal carcinoma antigen NY REN 3) (Usher syndrome type 1C protein)
  • Length: 552  
  • Mass: 62211
  • Tissue specificity: Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. {ECO
• Sequence:

  MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYD
  QLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEV
  INLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCS
  ISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTD
  RERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWE
  EDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMG
  KDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKA
  WNQGGDWIDLVVAVCPPKEYDDELTFF

• Structural information:
  • Protein Domains: (87..16-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (211..29-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (452..53-)
    (/note="PDZ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR030237  IPR001478  IPR036034  
  • Prosite: PS50106
  • PDB: 1X5N 2KBQ 2KBR 2KBS 2LSR 3K1R 5F3X 5MV8 5MV9 5XBF
  • PDBsum: 1X5N 2KBQ 2KBR 2KBS 2LSR 3K1R 5F3X 5MV8 5MV9 5XBF
  • DIP: 41473
  • STRING: ENSP00000005226
• Other Databases: GeneCards:  USH1C  Malacards:  USH1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0045177	apical part of cell	IDA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	IMP	biological process
GO:0032420	stereocilium	TAS	cellular component
GO:0050953	sensory perception of light stimulus	IMP	biological process
GO:0050957	equilibrioception	IMP	biological process
GO:0060122	inner ear receptor cell stereocilium organization	IBA	biological process
GO:0042491	inner ear auditory receptor cell differentiation	IBA	biological process
GO:0042472	inner ear morphogenesis	IBA	biological process
GO:0032426	stereocilium tip	IBA	cellular component
GO:0046549	retinal cone cell development	IBA	biological process
GO:0032420	stereocilium	IBA	cellular component
GO:0032391	photoreceptor connecting cilium	IBA	colocalizes with
GO:0007605	sensory perception of sound	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0002142	stereocilia ankle link complex	IBA	cellular component
GO:0002141	stereocilia ankle link	IBA	cellular component
GO:0001917	photoreceptor inner segment	IBA	colocalizes with
GO:0005902	microvillus	IDA	cellular component
GO:0034622	cellular protein-containing complex assembly	IDA	biological process
GO:0005903	brush border	IDA	cellular component
GO:0032532	regulation of microvillus length	ISS	biological process
GO:1904970	brush border assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1904106	protein localization to microvillus	IMP	biological process
GO:1904106	protein localization to microvillus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0030507	spectrin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030046	parallel actin filament bundle assembly	ISS	biological process
GO:0042472	inner ear morphogenesis	ISS	biological process
GO:0042491	inner ear auditory receptor cell differentiation	ISS	biological process
GO:0060122	inner ear receptor cell stereocilium organization	ISS	biological process
GO:1904970	brush border assembly	ISS	biological process
GO:0051017	actin filament bundle assembly	ISS	biological process
GO:1904106	protein localization to microvillus	ISS	biological process
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0032420	stereocilium	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005903	brush border	IDA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Usher syndrome	KEGG:H00779
Deafness, autosomal recessive	KEGG:H00605
Usher syndrome	KEGG:H00779
Usher syndrome	PMID:23380860
Usher syndrome	PMID:11139240
Usher syndrome	PMID:17407589
Usher syndrome	PMID:10973247
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq